Associated Papers
Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis.
Naciri Bennani H et al.
Pediatric Nephrology (berlin, Germany), 2025
A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.
Giusti F et al.
International Journal of Molecular Sciences, 2023
CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
De Paolis E et al.
Clinical Chemistry and Laboratory Medicine, 2019
A novel heterozygous mutation c.680A>G (p. N227S) in SLC34A1 gene leading to autosomal dominant hypophosphatemia: A case report.
Chen X et al.
Medicine, 2019
Phosphate homeostasis disorders.
Christov M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2018
Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update.
Marik B et al.
Journal of Pediatric Genetics, 2018
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.
Dinour D et al.
Pediatric Nephrology (berlin, Germany), 2016
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
Rajagopal A et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Genetic diseases of renal phosphate handling.
Wagner CA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ et al.
Pediatric Nephrology (berlin, Germany), 2009
Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.
Bastepe M et al.
Reviews in Endocrine & Metabolic Disorders, 2008
Genetics of hypercalciuric nephrolithiasis: renal stone disease.
Stechman MJ et al.
Annals of the New York Academy of Sciences, 2007
Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa.
Virkki LV et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003